Myopathy Due to Cpt Ii Deficiency malady
Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases
Aliases & Descriptions for Myopathy Due to Cpt Ii Deficiency:
Orphanet epidemiological data:52
carnitine palmitoyl transferase deficiency type 2, adult-onset form:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy
myopathy due to cpt ii deficiency:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Metabolic diseases, Rare diseases
Anatomical: Neuronal diseases
UniProtKB/Swiss-Prot:68 Carnitine palmitoyltransferase 2 deficiency late-onset: Autosomal recessive disorder characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are triggered by prolonged exercise, fasting or viral infection and patients are usually young adults. In addition to this classical, late-onset, muscular type, a hepatic or hepatocardiomuscular form has been reported in infants. Clinical pictures in these children or neonates include hypoketotic hypoglycemia, liver dysfunction, cardiomyopathy and sudden death.
MalaCards based summary: Myopathy Due to Cpt Ii Deficiency, also known as carnitine palmitoyltransferase 2 deficiency late-onset, is related to cpt ii deficiency, lethal neonatal and carnitine palmitoyltransferase ii deficiency, and has symptoms including muscle weakness, myopathy and myalgia. An important gene associated with Myopathy Due to Cpt Ii Deficiency is CPT2 (Carnitine Palmitoyltransferase 2). Affiliated tissues include liver.
OMIM:50 Carnitine palmitoyltransferase II deficiency is the most common inherited disorder of mitochondrial long-chain fatty... (255110) more...
Diseases related to Myopathy Due to Cpt Ii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
Symptoms by clinical synopsis from OMIM:255110
Clinical features from OMIM:255110
Symptoms:52 (show all 7)
HPO human phenotypes related to Myopathy Due to Cpt Ii Deficiency:(show all 11)
UMLS symptoms related to Myopathy Due to Cpt Ii Deficiency:muscle cramp, muscular stiffness, myalgia
Genetic tests related to Myopathy Due to Cpt Ii Deficiency:
MalaCards organs/tissues related to Myopathy Due to Cpt Ii Deficiency:34
UniProtKB/Swiss-Prot genetic disease variations for Myopathy Due to Cpt Ii Deficiency:68 (show all 18)
Clinvar genetic disease variations for Myopathy Due to Cpt Ii Deficiency:5 (show all 12)
Search GEO for disease gene expression data for Myopathy Due to Cpt Ii Deficiency.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet